What is expanded NIPS?

Expanded NIPS refers to NIPS screening tests that look for abnormalities in chromosomes other than 21, 18, 13, X and Y.

The accuracy of looking for conditions beyond the standard panel drops significantly. However, it may be useful in a situation where there are differences on an ultrasound that are suggestive of a genetic condition and the mother declines diagnostic testing such as an amniocentesis.

One of the things an expanded NIPS test may look for are microdeletions or small missing pieces of chromosomes. Most of these conditions have a positive predictive value of less than 1%. This means that even if you tested “positive” for a microdeletion on NIPS, your risk may be less than 1% to actually have a child with that condition.

NIPS is a rapidly growing field. However, the accuracy of these new platforms is not yet well understood. Therefore, it is currently recommended that women interested in pursuing NIPS for screening early in pregnancy have the traditional NIPS panel.